List of variants in gene COL6A1 reported as likely pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.717+4A>G	rs762867111	0.00006
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)	rs886043521	0.00001
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn)	rs886042646
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)	rs764556767
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)	rs886043351
NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg)	rs886042856
NM_001848.3(COL6A1):c.823G>C (p.Gly275Arg)	rs1556425467
NM_001848.3(COL6A1):c.833G>A (p.Gly278Glu)	rs886043106
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	rs398123643
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)	rs398123644
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)	rs886042684
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu)	rs1556425679

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